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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23.
Neurology. 2013.
PMID: 23975875
Free PMC article.
Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H.
de Winter JM, et al.
J Med Genet. 2013 Jun;50(6):383-92. doi: 10.1136/jmedgenet-2012-101470. Epub 2013 Apr 9.
J Med Genet. 2013.
PMID: 23572184
Free PMC article.
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